GEPHE SUMMARY
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Gephebase Gene
Entry Status
Published
GepheID
GP00001734
Main curator
Courtier
PHENOTYPIC CHANGE
Trait Category
Trait
Trait State in Taxon A
Homo sapiens
Trait State in Taxon B
Homo sapiens - woolly hair
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
human
Synonyms
human; man; Homo sapiens Linnaeus, 1758; Home sapiens; Homo sampiens; Homo sapeins; Homo sapian; Homo sapians; Homo sapien; Homo sapience; Homo sapiense; Homo sapients; Homo sapines; Homo spaiens; Homo spiens; Humo sapiens
Rank
species
Lineage
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opterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Primates; Haplorrhini; Simiiformes; Catarrhini; Hominoidea; Hominidae; Homininae; Homo
Parent
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
human
Synonyms
human; man; Homo sapiens Linnaeus, 1758; Home sapiens; Homo sampiens; Homo sapeins; Homo sapian; Homo sapians; Homo sapien; Homo sapience; Homo sapiense; Homo sapients; Homo sapines; Homo spaiens; Homo spiens; Humo sapiens
Rank
species
Lineage
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opterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Primates; Haplorrhini; Simiiformes; Catarrhini; Hominoidea; Hominidae; Homininae; Homo
Parent
NCBI Taxonomy ID
is Taxon B an Infraspecies?
Yes
Taxon B Description
family ARWH18
GENOTYPIC CHANGE
Generic Gene Name
LPAR6
Synonyms
LAH3; P2Y5; ARWH1; HYPT8; P2RY5
String
Sequence Similarities
Belongs to the G-protein coupled receptor 1 family.
GO - Molecular Function
GO - Biological Process
GO - Cellular Component
GO:0005886 : plasma membrane
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Presumptive Null
Molecular Type
Aberration Type
Deletion Size
1-9 bp
Molecular Details of the Mutation
2 deletions - one at position 172-175 delAACT and one at position 177 delG - cause frameshift at codon 58 (PTC +31)
Experimental Evidence
Main Reference
Authors
Shimomura Y; Wajid M; Ishii Y; Shapiro L; Petukhova L; Gordon D; Christiano AM
Abstract
The genetic determinants of hair texture in humans are largely unknown. Several human syndromes exist in which woolly hair comprises a part of the phenotype; however, simple autosomal recessive inheritance of isolated woolly hair has only rarely been reported. To identify a gene involved in controlling hair texture, we performed genetic linkage analysis in six families of Pakistani origin with autosomal recessive woolly hair (ARWH; OMIM 278150). All six families showed linkage to chromosome 13q14.2-14.3 (Z = 17.97). In all cases, we discovered pathogenic mutations in P2RY5, which encodes a G protein-coupled receptor and is a nested gene residing within intron 17 of the retinoblastoma 1 (RB1) gene. P2RY5 is expressed in both Henle's and Huxley's layers of the inner root sheath of the hair follicle. Our findings indicate that disruption of P2RY5 underlies ARWH and, more broadly, uncover a new gene involved in determining hair texture in humans.
Additional References
RELATED GEPHE
Related Genes
Related Haplotypes
EXTERNAL LINKS
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